Results 11 to 20 of about 16,645,960 (212)

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease [PDF]

Haematologica, 2016
Gaucher disease is a rare inherited disease caused by a deficiency in glucocerebrosidase leading to lipid accumulation in cells of mononuclear-macrophage lineage known as Gaucher cells.
Nelly Reihani, Jean-Benoit Arlet, Michael Dussiot, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rose, Yves Colin-Aronovicz, Olivier Hermine, Caroline Le Van Kim, Melanie Franco   +9 more
doaj   +2 more sources

Gaucher Disease: A First Reported Adult Case in Indonesia

Acta Medica Indonesiana
A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio.
Ardhi Rahman Ahani, Cosphiadi Irawan, Agnes Stephanie Harahap, Klara Yuliarti, Maria Francisca Ham, Faramitha Nur Izzaty, Damayanti Rusli Sjarif   +6 more
doaj   +3 more sources

Pseudo-Gaucher cells in Hb E disease and thalassemia intermedia

Hematology, 2007

exaly   +2 more sources

Anàlisi molecular de la mucopolisacaridosi I, la mucopolisacaridosi II i la leucodistròfia metacromàtica en els pacients espanyols [PDF]

, 2000
[cat] La mucopolisacaridosi l, la mucopolisacaridosi II i la leucodistròfia metacromàtica sòn tres malalties Iisosòmiques hereditàries. Totes tres són degudes al defecte funcional d'un enzim Iisosòmic que és incapaç de degradar les macromolècules ...
Gort i Mas, Laura
core   +6 more sources

Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]

Journal of Clinical and Diagnostic Research, 2017
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai   +4 more
doaj   +1 more source

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients [PDF]

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
Rolfs, A, Hermann Mascher, Boettcher, T, Anne-Katrin Giese (440558), Wittstock, M, Huebner, R, Roehle, A, Arndt Rolfs (140849), Zimran Ari, Deborah Elstein (487463), Mascher Hermann, Deborah Elstein, Ari Zimran, Röhle Anja, Wittstock Matthias, Arndt Rolfs, Grittner Ulrike, Tobias Böttcher (451245), Grittner, U, Jan Lukas, Rolfs Arndt, Jan Lukas (338014), Rayk Hübner (487464), Rayk Hübner, Uta Gölnitz, Ales Dudesek, Lukas Jan, Anja Röhle, Daniel Mascher (487462), Meyer, W, Tobias Böttcher, Giese, A-K, Mascher Daniel, Giese Anne-Katrin, Hermann Mascher (440562), Anne-Katrin Giese, Goelnitz, U, Daniel Mascher, Dudesek Ales, Ulrike Grittner, Uta Gölnitz (87824), Zimran, A, Matthias Wittstock (487467), Mascher, H, Elstein, D, Dudesek, A, Gölnitz Uta, Matthias Wittstock, Böttcher Tobias, Hübner Rayk, Ulrike Grittner (440560), Mascher, D, Ari Zimran (266246), Lukas, J, Wolfgang Meyer, Meyer Wolfgang, Wolfgang Meyer (440563), Elstein Deborah, Anja Röhle (487465), Ales Dudesek (487466)   +59 more
core   +2 more sources

Atypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1.

Folia Histochemica et Cytobiologica, 2015
INTRODUCTION Gaucher cells (GCs), the lipid-laden storage macrophages, are the pathologic hallmark of Gaucher disease (GD). They are typically 20-100 μm in diameter with eccentrically placed nuclei and cytoplasm with characteristic crinkles and ...
A. Markuszewska-Kuczyńska, Monika Klimkowska, Sofie Regenthal, Agnes Bulanda, Cecilia Kämpe Björkvall, M. Machaczka   +5 more
semanticscholar   +1 more source

Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease

Egyptian Journal of Medical Human Genetics, 2015
Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of the membrane-bound lysosomal enzyme, acid β-glucosidase or glucocerebrosidase.
Azza A.G. Tantawy
doaj   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

JIMD Reports, 2021
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and ...
Eline C. B. Eskes, Martijn J. C. van derLienden, Joris J. T. H. Roelofs, Liffert Vogt, Johannes M. F. G. Aerts, Jan Aten, Carla E. M. Hollak   +6 more
doaj   +1 more source